Report Date: 2025-07-05 08:01
Pipeline: Rare Disease Variant Prioritization v1.0
High Priority Variants
Medium Priority Variants
Low Priority Variants
Total Variants
| CHROM | POS | REF | ALT | SYMBOL | Consequence | gnomAD_AF | CADD_PHRED | REVEL | CLIN_SIG | pathogenicity_score | priority_score | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 0 | 22 | 16352119 | A | G | TP53 | missense_variant | 0.0002 | 35.3835 | 0.9943 | Pathogenic | 10.0 | 15.0 |
| 1 | 22 | 16062289 | G | A | CHEK2 | missense_variant | 0.0002 | 37.8899 | 0.7653 | Pathogenic | 10.0 | 15.0 |
| 2 | 22 | 16066471 | GC | G | OTHER2 | frameshift_variant | 0.0006 | 32.4221 | 0.9718 | Pathogenic | 10.0 | 15.0 |
| 3 | 22 | 16229119 | G | A | TP53 | missense_variant | 0.0002 | 33.1300 | 0.8067 | Pathogenic | 10.0 | 15.0 |
| 4 | 22 | 16181155 | T | A | CHEK2 | missense_variant | 0.0002 | 32.7134 | 0.9859 | Pathogenic | 10.0 | 15.0 |
| 5 | 22 | 16335870 | C | T | CDKN2A | missense_variant | 0.0002 | 30.4341 | 0.6549 | Pathogenic | 9.0 | 14.0 |
| 6 | 22 | 16163594 | C | G | BRCA2 | missense_variant | 0.0002 | 24.9187 | 0.9438 | Pathogenic | 9.0 | 14.0 |
| 7 | 22 | 16341505 | G | A | BRCA2 | missense_variant | 0.0002 | 23.7136 | 0.7969 | Pathogenic | 9.0 | 14.0 |
| 8 | 22 | 16362582 | C | A | CHEK2 | missense_variant | 0.0002 | 25.1928 | 0.8090 | Pathogenic | 9.0 | 14.0 |
| 9 | 22 | 16142248 | T | G | OTHER3 | missense_variant | 0.0004 | 34.8040 | 0.7951 | Pathogenic | 10.0 | 13.0 |
| 10 | 22 | 16150952 | T | A | OTHER2 | missense_variant | 0.0008 | 38.9396 | 0.8794 | Pathogenic | 10.0 | 13.0 |
| 11 | 22 | 16071986 | C | T | OTHER3 | missense_variant | 0.0004 | 32.2481 | 0.9903 | Pathogenic | 10.0 | 13.0 |
| 12 | 22 | 16117736 | C | T | CDKN2A | missense_variant | 0.0004 | 33.5559 | 0.2751 | Pathogenic | 8.0 | 13.0 |
| 13 | 22 | 16315885 | G | A | BRCA2 | missense_variant | 0.0010 | 33.7330 | 0.4105 | Pathogenic | 8.0 | 13.0 |
| 14 | 22 | 16060866 | G | A | OTHER1 | missense_variant | 0.0006 | 34.3365 | 0.7663 | Pathogenic | 10.0 | 13.0 |
| 15 | 22 | 16355755 | A | G | GENE2 | missense_variant | 0.0002 | 39.3427 | 0.9146 | Pathogenic | 10.0 | 13.0 |
| 16 | 22 | 16050627 | G | T | GENE1 | missense_variant | 0.0004 | 34.6470 | 0.8614 | Pathogenic | 10.0 | 13.0 |
| 17 | 22 | 16232108 | G | A | GENE1 | missense_variant | 0.0004 | 35.6921 | 0.8350 | Pathogenic | 10.0 | 13.0 |
| 18 | 22 | 16405095 | C | T | OTHER3 | missense_variant | 0.0002 | 39.6613 | 0.8466 | Pathogenic | 10.0 | 13.0 |
| 19 | 22 | 16143946 | A | G | OTHER3 | missense_variant | 0.9123 | 34.9471 | 0.9814 | Pathogenic | 10.0 | 12.0 |
This report is for research purposes. Clinical decisions should involve genetic counseling and additional testing.